AUTOMATED SEQUENCE VARIATION ANALYSIS SOFTWARE

自动序列变异分析软件

• 批准号: 6298534
• 负责人: CHARLES L MAGNESS
• 金额: $ 10.27万
• 依托单位: ILLUMIGEN BIOSCIENCES, INC.
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-04-01 至 2001-09-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6298534
• 关键词: DNA methylation; automated data processing; computer assisted sequence analysis; computer program /software; computer system design /evaluation; data management; frameshift mutation; genetic polymorphism; nucleic acid sequence; phenotype

Development of an automated DNA sequence variation analysis software and data management package is proposed. The software is aimed at analyzing diploid sequencing and methylation analysis samples from patients in a study population that have been stratified by some defining criteria or phenotype in relation to a disease of interest. The goal of the software is to detect relatively rare sequence variations or methylation state changes which when analyzed for functional effect can be statistically correlated with the phenotype of interest. In this Phase I proposal, we propose to extend an existing database architecture and develop pre-processing software that will characterize all observed variations (including frameshifts) and provide a score related to the likelihood that the observed variation is present in the sample. PROPOSED COMMERCIAL APPLICATION: The pharmaceutical and biotechnology industry is expected to become increasingly reliant in their drug development efforts on the ready identification of new and existing polymorphisms in clinical and other study populations of humans. The software developed using this grant will become centrally important in reliably identifying and assaying polymorphisms from diploid genomic sources.

自动化DNA序列变异分析软件和数据的开发 提出了管理包。该软件旨在分析二倍体 研究人群患者样本的测序和甲基化分析 已通过与某个相关的某些定义标准或表型进行分层 感兴趣的疾病。该软件的目标是检测相对罕见的序列 分析功能效应时的变异或甲基化状态变化 可以与感兴趣的表型统计相关。在第一阶段提案中， 我们建议扩展现有的数据库架构并开发预处理 软件将描述所有观察到的变化（包括移码）和 提供与观察到的变化存在于数据中的可能性相关的分数 样本。 拟议的商业应用： 制药和生物技术行业预计将变得越来越 他们的药物开发工作依赖于现成的新药和新药的鉴定 人类临床和其他研究人群中现有的多态性。这 使用这笔赠款开发的软件将在可靠方面变得至关重要 鉴定和分析二倍体基因组来源的多态性。